Aliases for ZNF517 Gene

Aliases for ZNF517 Gene

  • Zinc Finger Protein 517 2 3 4 5
  • ZNF517 5

External Ids for ZNF517 Gene

Previous GeneCards Identifiers for ZNF517 Gene

  • GC08P146029
  • GC08P145995
  • GC08P146024
  • GC08P141139
  • GC08P144799

Summaries for ZNF517 Gene

GeneCards Summary for ZNF517 Gene

ZNF517 (Zinc Finger Protein 517) is a Protein Coding gene. Diseases associated with ZNF517 include Borderline Leprosy. Among its related pathways are Gene Expression and Herpes simplex virus 1 infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF605.

UniProtKB/Swiss-Prot Summary for ZNF517 Gene

Additional gene information for ZNF517 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF517 Gene

Genomics for ZNF517 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF517 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J144795 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 614.4 -0.8 -845 6.9 GATAD2A HNRNPL PRDM10 TFE3 SIX5 POLR2A BACH1 JUND FOXA1 LARP7 ZNF517 piR-40163-116 piR-52261-273 RPL8 ZNF7 VPS28 CPSF1 ZNF250 LRRC14 ZNF34
GH08J144544 Promoter 0.3 EPDnew 600.1 -254.6 -254607 0.1 lnc-C8orf82-1 ZNF517 C8orf82 ARHGAP39
GH08J144101 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 42.8 -694.8 -694809 4.3 SP1 HNRNPL CREB1 PRDM10 ZNF629 REST SIX5 LEF1 IKZF1 ZNF692 MAF1 SHARPIN ZNF623 ZNF7 ZNF517 ZNF16 ZNF251 ZNF250 ZNF696 LRRC14
GH08J144455 Enhancer 1 ENCODE 72.2 -342.4 -342430 1.6 HNRNPL CREB1 ATF7 ZNF629 LEF1 IKZF1 KDM1A ZNF692 POLR2A ZNF174 lnc-TONSL-3 ZNF251 ZNF7 ZNF623 LRRC14 ZNF250 CPSF1 ZNF16 VPS28 ZNF517
GH08J144425 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.6 -369.9 -369937 6.8 SP1 HNRNPL CREB1 ZBTB33 TEAD4 PRDM10 ZNF629 TFE3 SIX5 ZNF692 VPS28 lnc-TONSL-1 lnc-TONSL-2 CPSF1 ZNF7 ZNF623 TONSL ZNF16 ZNF517 SLC39A4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF517 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF517

Top Transcription factor binding sites by QIAGEN in the ZNF517 gene promoter:
  • C/EBPalpha
  • FAC1
  • N-Myc
  • NRF-2
  • Pax-3
  • TBP

Genomic Locations for ZNF517 Gene

Genomic Locations for ZNF517 Gene
chr8:144,798,876-144,813,137
(GRCh38/hg38)
Size:
14,262 bases
Orientation:
Plus strand
chr8:146,024,261-146,036,554
(GRCh37/hg19)
Size:
12,294 bases
Orientation:
Plus strand

Genomic View for ZNF517 Gene

Genes around ZNF517 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF517 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF517 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF517 Gene

Proteins for ZNF517 Gene

  • Protein details for ZNF517 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMY9-ZN517_HUMAN
    Recommended name:
    Zinc finger protein 517
    Protein Accession:
    Q6ZMY9

    Protein attributes for ZNF517 Gene

    Size:
    492 amino acids
    Molecular mass:
    54711 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZNF517 Gene

Post-translational modifications for ZNF517 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF517 Gene

Domains & Families for ZNF517 Gene

Gene Families for ZNF517 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF517 Gene

InterPro:
Blocks:
  • KRAB box
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF517 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 517 (A0AV05_HUMAN)
  • ZNF517 protein (B7ZLN6_HUMAN)
  • Zinc finger protein 517, isoform CRA_a (D3DWN4_HUMAN)
  • Zinc finger protein 517 (ZN517_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZMY9

UniProtKB/Swiss-Prot:

ZN517_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF517: view

Function for ZNF517 Gene

Molecular function for ZNF517 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZNF517 Gene

Gene Ontology (GO) - Molecular Function for ZNF517 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF517: view
genes like me logo Genes that share phenotypes with ZNF517: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF517

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF517 Gene

Localization for ZNF517 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF517 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF517 gene
Compartment Confidence
nucleus 4
peroxisome 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF517 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with ZNF517: view

Pathways & Interactions for ZNF517 Gene

genes like me logo Genes that share pathways with ZNF517: view

Pathways by source for ZNF517 Gene

2 Reactome pathways for ZNF517 Gene
1 KEGG pathway for ZNF517 Gene

Gene Ontology (GO) - Biological Process for ZNF517 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with ZNF517: view

No data available for SIGNOR curated interactions for ZNF517 Gene

Drugs & Compounds for ZNF517 Gene

No Compound Related Data Available

Transcripts for ZNF517 Gene

mRNA/cDNA for ZNF517 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF517

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF517 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8
SP1: - -
SP2: - - - - - - - -
SP3:
SP4: - -
SP5: -
SP6: - - - - - -

Relevant External Links for ZNF517 Gene

GeneLoc Exon Structure for
ZNF517

Expression for ZNF517 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF517 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

Protein differential expression in normal tissues from HIPED for ZNF517 Gene

This gene is overexpressed in Heart (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZNF517 Gene



Protein tissue co-expression partners for ZNF517 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF517

SOURCE GeneReport for Unigene cluster for ZNF517 Gene:

Hs.521942

Evidence on tissue expression from TISSUES for ZNF517 Gene

  • Liver(2)
genes like me logo Genes that share expression patterns with ZNF517: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF517 Gene

Orthologs for ZNF517 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ZNF517 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNF517 30 31
  • 98.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZNF517 30 31
  • 80.59 (n)
OneToOne
Species where no ortholog for ZNF517 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ZNF517 Gene

ENSEMBL:
Gene Tree for ZNF517 (if available)
TreeFam:
Gene Tree for ZNF517 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF517: view image

Paralogs for ZNF517 Gene

Paralogs for ZNF517 Gene

(481) SIMAP similar genes for ZNF517 Gene using alignment to 7 proteins:

  • ZN517_HUMAN
  • A0AV05_HUMAN
  • B7ZLN6_HUMAN
  • D3DWN4_HUMAN
  • E9PIL1_HUMAN
  • G3V191_HUMAN
  • H0YCN3_HUMAN
genes like me logo Genes that share paralogs with ZNF517: view

Variants for ZNF517 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF517 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs2976649 - p.Pro6Leu

Additional dbSNP identifiers (rs#s) for ZNF517 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF517 Gene

Variant ID Type Subtype PubMed ID
esv3573037 CNV loss 25503493
nsv522459 CNV loss 19592680
nsv523879 CNV loss 19592680
nsv612969 CNV loss 21841781

Variation tolerance for ZNF517 Gene

Residual Variation Intolerance Score: 80.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.55; 55.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF517 Gene

Human Gene Mutation Database (HGMD)
ZNF517
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF517

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF517 Gene

Disorders for ZNF517 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF517 Gene - From: DISEASES

Disorder Aliases PubMed IDs
borderline leprosy
  • borderline or dimorphous leprosy
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ZNF517: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF517 Gene

Publications for ZNF517 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
  5. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 4

Products for ZNF517 Gene

Sources for ZNF517 Gene